Primary Identifier | MGI:1915551 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 74360 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables microtubule binding activity. Involved in protein homooligomerization and spermatid development. Located in centrosome; cytoplasm; and nucleus. Is expressed in midbrain ventricular layer and telencephalon ventricular layer. Human ortholog(s) of this gene implicated in mosaic variegated aneuploidy syndrome 2. Orthologous to human CEP57 (centrosomal protein 57). PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete lethality by E15.5. Mice heterozygous for the allele exhibit increased tumor incidence with aneuploidy. Mice homozygous for a hypomorphic allele exhibit abnormal bone ossification, short curly tails, and neonatal lethality. [provided by MGI curators] |